“People who live with hemophilia today face a lifelong need for vigilant monitoring and recurrent factor concentrate infusions to prevent spontaneous, potentially life-threatening bleeds and to protect their joints. The discipline required to execute the usual prophylactic regimen can exact a heavy toll on quality of life, and these regimens result in significant costs to patients, families and the health care system,” said Katherine A. High, M.D., president and head of Research and Development at Spark Therapeutics and co-author of the paper. “The data suggest a one-time infusion of SPK-9001 has the potential to safely sustain factor IX coagulant activity level that may result in the termination of baseline prophylaxis factor infusions, significantly reduce bleeding, and nearly eliminate the need for exogenous factor IX concentrate infusions.”
In this open-label, non-randomized, multicenter Phase 1/2 clinical trial, there were no serious adverse events during or following infusion of SPK-9001, and no participants experienced thrombotic events or developed factor IX inhibitors. Two participants developed an asymptomatic and transient increase in liver enzymes that resolved with a tapering dose of oral corticosteroids. One participant with severe joint disease has administered factor for suspected bleeding, but overall factor use for this participant was 91 percent lower than before SPK-9001 infusion.
About Hemophilia B
Hemophilia, a rare genetic bleeding disorder that causes the blood to take a long time to clot because of a deficiency in one of several blood clotting factors, is almost exclusively found in males. People with hemophilia are at risk for excessive and recurrent bleeding from modest injuries, which have the potential to be life threatening. People with severe hemophilia often bleed spontaneously into their muscles or joints, or rarely into other critical closed spaces such as the intracranial space, where bleeding can be fatal. The incidence of hemophilia B is one in 25,000 male births. People with hemophilia B have a deficiency in clotting factor IX, a specific protein in the blood. Hemophilia B also is called congenital factor IX deficiency or Christmas disease. The current standard of care requires recurrent intravenous infusions of either plasma-derived or recombinant factor IX to control and prevent bleeding episodes. There exists a significant need for novel therapeutics to treat people living with hemophilia.
